01
BAIAP3
No data
Diseases
Alpha-Thalassemia Mental Retardation Syndrome, Deletion-Type
alpha-thalassemia mental retardation syndrome, deletion-type
- Entity Type
- Diseases
- Relation Groups
- 1
- Relation Preview
- 8
Basic Information
Grouped by core information, identifiers, and descriptions.
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Core Information
- Disease Name
- Alpha-Thalassemia Mental Retardation Syndrome, Deletion-Type
- Standard Disease Name
- alpha-thalassemia mental retardation syndrome, deletion-type
- MeSH Tree
- No data
- ICD-10
- No data
Identifiers
- DO ID
- No data
- MeSH ID
- C563050
- OMIM ID
- 141750
- UMLS ID
- C0795917
- HPO ID
- No data
Description and Extensions
- Description
- JABL99:A variant of the alpha-thalassemia/mental retardation syndrome (ATR) due to deletion of a segment of the short arm of chromosome 16. A form in which there is no deletion is termed "alpha-thalassemia/mental retardation syndrome, nondeletion type" (q.v.). The phenotype is variable and consists of mental retardation in association with different combinations of oro-facial, genital, and other abnormalities.